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Items: 14

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    Number of Variants: 14

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3910859copy number variation1nstd102humanUncertain significance NCBI36 chr1: 148,613,931-148,772,464 , GRCh37.p13 chr1|NW_003871055.3: 7,190,244-7,283,150 , GRCh37.p13 chr1: 150,347,307-150,505,840 , GRCh38.p12 chr1: 150,374,831-150,533,364 TARS2, ECM1, 3 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 TARS2, CRB1, 1608 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 TARS2, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 TARS2, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 TARS2, RNU1-153P, 4887 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 TARS2, LOC101060227, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 TARS2, HORMAD1, 923 more genes
    nsv3887001copy number variation1nstd102humanBenign GRCh37 chr1: 150,455,813-150,526,044 , GRCh38.p12 chr1: 150,483,337-150,553,568 TARS2, ECM1, 5 more genes
    nsv3895295copy number variation1nstd102humanLikely benign NCBI36 chr1: 148,453,763-148,804,107 , GRCh38 chr1: 150,214,843-150,565,007 , GRCh37 chr1: 150,187,139-150,537,483 TARS2, MRPS21, 18 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 TARS2, DCST1, 2428 more genes
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 TARS2, PRPF3, 352 more genes
    nsv6310679copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,044,213-150,477,474 , GRCh38.p12 chr1: 150,072,146-150,504,998 TARS2, LINC02988, 15 more genes
    nsv7095319copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,039,915-150,464,158 , GRCh38.p12 chr1: 150,067,858-150,491,682 TARS2, MIR6878, 15 more genes
    nsv4453239copy number variation1nstd102humanUncertain significance GRCh37 chr1: 150,270,870-150,527,943 , GRCh38.p12 chr1: 150,298,445-150,555,467 TARS2, MIR6878, 8 more genes
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